From: Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders
SNP | Location | Â | Diagnosis | n | Genotype | P value | Q value | Allele | P value | Q value | Odds ratio (95 % CI) | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs6996621 | intron 1 | Â | Â | Â | C/C | C/A | A/A | Â | Â | C | A | Â | Â | C versus A |
c.-68-61C > A | Â | total | autism | 454 | 387 (85.2%) | 62 (13.7%) | 5 (1.1%) | 0.619 | 0.312 | 836 (92.1%) | 72 (7.9%) | 0.401 | 0.204 | 1.11 (0.83 to 1.57) |
 |  |  | control | 557 | 467 (83.8%) | 80 (14.4%) | 10 (1.8%) |  |  | 1014 (91.0%) | 100 (9.0%) |  |  |  |
 |  | male | autism | 394 | 336 (85.3%) | 55 (14.0%) | 3 (0.7%) | 0.593 | 0.203 | 727 (92.3%) | 61 (7.7%) | 0.611 | 0.611 |  |
 |  |  | control | 246 | 208 (84.6%) | 34 (13.8%) | 4 (1.6%) |  |  | 450 (91.5%) | 42 (8.5%) |  |  |  |
 |  | female | autism | 60 | 51 (85%) | 7 (11.7%) | 2 (3.3%) | 0.663 | 0.266 | 109 (90.8%) | 11 (9.2%) | 0.956 | 0.956 |  |
 |  |  | control | 311 | 259 (83.3%) | 46 (14.8%) | 6 (1.9%) |  |  | 564 (90.7%) | 58 (9.3%) |  |  |  |
rs2906568 | intron 1 | Â | Â | Â | C/C | C/G | G/G | Â | Â | C | G | Â | Â | C versus G |
c.-68-25C > G | Â | total | autism | 456 | 188 (41.2%) | 169 (37.1%) | 99 (21.7%) | 0.142 | 0.112 | 545 (59.8%) | 367 (40.2%) | 0.125 | 0.105 | 1.15 (0.96 to 1.37) |
 |  |  | control | 557 | 197 (35.4%) | 234 (42.0%) | 126 (22.6%) |  |  | 628 (56.4%) | 486 (43.6%) |  |  |  |
 |  | male | autism | 396 | 171 (43.2%) | 138 (34.8%) | 87 (22.0%) | 0.072 | 0.107 | 480 (60.6%) | 312 (39.4%) | 0.146 | 0.299 |  |
 |  |  | control | 246 | 86 (35.0%) | 106 (43.0%) | 54(22.0%) |  |  | 278 (56.5%) | 214 (43.5%) |  |  |  |
 |  | female | autism | 60 | 17 (28.3%) | 31 (51.7%) | 12 (20%) | 0.316 | 0.266 | 65 (54.2%) | 55 (45.8%) | 0.671 | 0.897 |  |
 |  |  | control | 311 | 111 (35.7%) | 128 (41.1%) | 72 (23.2%) |  |  | 350 (56.3%) | 272 (43.7%) |  |  |  |
rs2906569 | intron 1 | Â | Â | Â | A/A | A/G | G/G | Â | Â | A | G | Â | Â | A versus G |
c.-68-4A > G | Â | total | autism | 458 | 219 (47.8%) | 138 (30.1%) | 101 (22.1%) | 0.0006 | 0.095 | 576 (62.9%) | 340 (37.1%) | 0.112 | 0.105 | 1.16 (0.97 to 1.38) |
 |  |  | control | 557 | 215 (38.6%) | 232 (41.7%) | 110 (19.7%) |  |  | 662 (59.4%) | 452 (40.6%) |  |  |  |
 |  | male | autism | 398 | 199 (50.0%) | 109 (27.4%) | 90 (22.6%) | 0.0001 | 0.107 | 507 (63.7%) | 289 (36.3%) | 0.075 | 0.299 |  |
 |  |  | control | 246 | 91 (37.0%) | 107 (43.5%) | 48 (19.5%) |  |  | 289 (58.7%) | 203 (41.3%) |  |  |  |
 |  | female | autism | 60 | 20 (33.3%) | 29 (48.3%) | 11 (18.4%) | 0.491 | 0.266 | 69 (57.5%) | 51 (42.5%) | 0.614 | 0.897 |  |
 |  |  | control | 311 | 124 (39.9%) | 125 (40.2%) | 62 (19.9%) |  |  | 373 (60.0%) | 249 (40.0%) |  |  |  |
rs60089073 | exon 2 | Â | Â | Â | C/C | C/T | T/T | Â | Â | C | T | Â | Â | C versus T |
His73 | Â | total | autism | 466 | 401 (86.1%) | 54 (11.6%) | 11 (2.3%) | 0.989 | 0.388 | 856 (91.8%) | 76 (8.2%) | 0.891 | 0.363 | 0.98 (0.71 to 1.35) |
 |  |  | control | 557 | 481 (86.4%) | 63 (11.3%) | 13 (2.3%) |  |  | 1025 (92.0%) | 89 (8.0%) |  |  |  |
 |  | male | autism | 404 | 346 (85.6%) | 48 (11.9%) | 10 (2.5%) | 0.236 | 0.133 | 740 (91.6%) | 68 (8.4%) | 0.093 | 0.299 |  |
 |  |  | control | 246 | 219 (89.0%) | 25 (10.2%) | 2 (0.8%) |  |  | 463 (94.1%) | 29 (5.9%) |  |  |  |
 |  | female | autism | 62 | 55 (88.7%) | 6 (9.7%) | 1 (1.6%) | 0.607 | 0.266 | 116 (93.5%) | 8 (6.5%) | 0.259 | 0.897 |  |
 |  |  | control | 311 | 262 (84.3%) | 38 (12.2%) | 11 (3.5%) |  |  | 562 (90.4%) | 60 (9.6%) |  |  |  |
rs2301963 | exon 3 | Â | Â | Â | C/C | C/A | A/A | Â | Â | C | A | Â | Â | C versus A |
Pro384Gln | Â | total | autism | 513 | 171 (33.3%) | 231 (45.1%) | 111 (21.6%) | 0.0005 | 0.095 | 573 (55.8%) | 453 (44.2%) | 0.026 | 0.105 | 1.21 (1.02 to 1.43) |
 |  |  | control | 593 | 139 (23.4%) | 328 (55.%) | 126 (21.2%) |  |  | 606 (51.1%) | 580 (48.9%) |  |  |  |
 |  | male | autism | 448 | 150 (33.5%) | 202 (45.1%) | 96 (21.4%) | 0.068 | 0.107 | 502 (56.0%) | 394 (44.0%) | 0.102 | 0.299 |  |
 |  |  | control | 260 | 66 (25.4%) | 136 (52.3%) | 58 (22.3%) |  |  | 268 (51.5%) | 252 (48.5%) |  |  |  |
 |  | female | autism | 65 | 21 (32.3%) | 29 (44.6%) | 15 (23.1%) | 0.124 | 0.266 | 71 (54.6%) | 59 (45.4%) | 0.420 | 0.897 |  |
 |  |  | control | 333 | 73 (21.9%) | 192 (57.7%) | 68 (20.4%) |  |  | 338 (50.8%) | 328 (49.2%) |  |  |  |
rs6995760 | intron 5 | Â | Â | Â | A/A | A/G | G/G | Â | Â | A | G | Â | Â | A versus G |
c.1570 + 14A > G | Â | total | autism | 500 | 346 (69.2%) | 141 (28.2%) | 13 (2.6%) | 0.913 | 0.388 | 833 (83.3%) | 167 (16.7%) | 0.925 | 0.363 | 1.01 (0.80 to 1.27) |
 |  |  | control | 531 | 368 (69.3%) | 147 (27.7%) | 16 (3.0%) |  |  | 883 (83.1%) | 179 (16.9%) |  |  |  |
 |  | male | autism | 432 | 305 (70.6%) | 115 (26.6%) | 12 (2.8%) | 0.502 | 0.193 | 725 (83.9%) | 139 (16.1%) | 0.245 | 0.299 |  |
 |  |  | control | 234 | 155 (66.3%) | 71 (30.3%) | 8 (3.4%) |  |  | 381 (81.4%) | 87 (18.6%) |  |  |  |
 |  | female | autism | 68 | 41 (60.3%) | 26 (38.2%) | 1 (1.5%) | 0.103 | 0.266 | 108 (79.4%) | 28 (20.6%) | 0.148 | 0.897 |  |
 |  |  | control | 297 | 213 (71.7%) | 76 (25.6%) | 8 (2.7%) |  |  | 502 (84.5%) | 92 (15.5%) |  |  |  |
rs2235112 | exon 6 | Â | Â | Â | A/A | A/G | G/G | Â | Â | A | G | Â | Â | A versus G |
Glu598 | Â | total | autism | 509 | 95 (18.8%) | 233 (45.7%) | 181 (35.5%) | 0.028 | 0.095 | 424 (41.6%) | 595 (58.4%) | 0.012 | 0.105 | 1.29 (1.05 to 1.50) |
 |  |  | control | 513 | 66 (12.9%) | 239 (46.6%) | 208 (40.5%) |  |  | 371 (36.2%) | 655 (63.8%) |  |  |  |
 |  | male | autism | 444 | 85 (19.1%) | 205 (46.2%) | 154 (34.7%) | 0.049 | 0.107 | 375 (42.2%) | 513 (57.8%) | 0.014 | 0.299 |  |
 |  |  | control | 224 | 28 (12.5%) | 102 (45.5%) | 94 (42.0%) |  |  | 158 (35.3%) | 290 (64.7%) |  |  |  |
 |  | female | autism | 66 | 11 (16.7%) | 28 (42.4%) | 27 (40.9%) | 0.671 | 0.266 | 50 (37.9%) | 82 (62.1%) | 0.825 | 0.928 |  |
 |  |  | control | 289 | 38 (13.2%) | 137 (47.4%) | 114 (39.4%) |  |  | 213 (36.9%) | 365 (63.1%) |  |  |  |
rs2235113 | intron 6 | Â | Â | Â | C/C | C/G | G/G | Â | Â | C | G | Â | Â | C versus G |
c.1920 + 19C > G | Â | total | autism | 510 | 156 (30.6%) | 233 (45.7%) | 121 (23.7%) | 0.050 | 0.095 | 545 (53.4%) | 475 (46.6%) | 0.030 | 0.105 | 1.21 (1.02 to 1.44) |
 |  |  | control | 509 | 121 (23.8%) | 253 (49.7%) | 135 (26.5%) |  |  | 495 (48.6%) | 523 (51.4%) |  |  |  |
 |  | male | autism | 443 | 137 (30.9%) | 205 (46.3%) | 101 (22.8%) | 0.303 | 0.139 | 479 (54.1%) | 407 (45.9%) | 0.243 | 0.299 |  |
 |  |  | control | 222 | 56 (25.2%) | 113 (50.9%) | 53 (23.9%) |  |  | 225 (50.7%) | 219 (49.3%) |  |  |  |
 |  | female | autism | 67 | 19 (28.3%) | 28 (41.8%) | 20 (29.9%) | 0.513 | 0.266 | 66 (49.3%) | 68 (50.7%) | 0.644 | 0.897 |  |
 |  |  | control | 287 | 65 (22.6%) | 140 (48.8%) | 82 (28.6%) |  |  | 270 (47.0%) | 304 (53.0%) |  |  |  |
rs2293909 | intron 11 | Â | Â | Â | T/T | T/C | C/C | Â | Â | T | C | Â | Â | T versus C |
c.2709 + 71T > C | Â | total | autism | 460 | 255 (55.4%) | 166 (36.1%) | 39 (8.5%) | 0.012 | 0.095 | 676 (73.5%) | 244 (26.5%) | 0.012 | 0.105 | 1.28 (1.06 to 1.55) |
 |  |  | control | 573 | 265 (46.2%) | 254 (44.3%) | 54 (9.4%) |  |  | 784 (68.4%) | 362 (31.6%) |  |  |  |
 |  | male | autism | 403 | 230 (57.1%) | 138 (34.2%) | 35 (8.7%) | 0.117 | 0.107 | 598 (74.2%) | 208 (25.8%) | 0.165 | 0.299 |  |
 |  |  | control | 256 | 127 (49.6%) | 108 (42.2%) | 21 (8.2%) |  |  | 362 (70.7%) | 150 (29.3%) |  |  |  |
 |  | female | autism | 57 | 25 (43.9%) | 28 (49.1%) | 4 (7.0%) | 0.719 | 0.266 | 78 (68.4%) | 36 (31.6%) | 0.698 | 0.897 |  |
 |  |  | control | 317 | 138 (43.5%) | 146 (46.1%) | 33 (10.4%) |  |  | 422 (66.6%) | 212 (33.4%) |  |  |  |